Kallmann's syndrome

Indian J Pediatr. 2007 Dec;74(12):1113-5. doi: 10.1007/s12098-007-0209-5.

Abstract

Kallmann's syndrome is a rare genetic disorder due to abnormal migration of olfactory axons and gonadotropin releasing hormone producing neurons, characterized by hypogonadism and anosmia. The prevalence of Kallmann's syndrome is 1:10,000 to 1:60,000 with a male to female ratio of 5:1. The inheritance of Kallmann's syndrome may be X-linked, autosomal recessive or autosomal dominant with variable penetrance, mutation involving KAL-1 and KAL-2 gene respectively. We report a case of Kallmann's syndrome in a 19-year-old boy with characteristic clinical, biochemical and MRI findings.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Dose-Response Relationship, Drug
  • Drug Administration Schedule
  • Follow-Up Studies
  • Humans
  • Kallmann Syndrome / diagnosis*
  • Kallmann Syndrome / drug therapy*
  • Male
  • Severity of Illness Index
  • Testosterone / therapeutic use*

Substances

  • Testosterone